Hemochromatosis and Iron Overload Screening Study (HEIRS) - Catalog

Name

Hemochromatosis and Iron Overload Screening Study (HEIRS)

Accession Number

HLB00690919a

Acronym

HEIRS

Related studies

BSI Study IDs

HEIR

Is public use dataset

False

Keywords

Has Study Datasets

True

Has Specimens

True

Specimen ID Type

Coded

Study Website

The Framingham Heart Study Group requires that the requestor must obtain full or expedited IRB/Ethics Committee review and approval to obtain these data. Waivers or a determination that the research is exempt from ethical regulations do not suffice.

False

Study type

Epidemiology Study

Collection Type

Open BioLINCC Study

Cohort type

Adult

Interventions

Study Open Date (Data)

2009-10-01

Study Open Date (Specimens)

2009-10-01

Date materials available

2009-01-29

Last updated

2009-04-13

Study period

January 2000 - January 2006

Study Contacts
NHLBI Division

DCVS

Classification

Heart

HIV study classification

non-HIV

COVID study classification

non-COVID

Pre-Website # of Specimens Shipped

276

# of Returned Specimens

25632

Primary Publication URLs
N/A
Conditions

Blood Disease
Hemochromatosis
Iron Overload

Objectives

The HEIRS Study evaluated the prevalence and genetic and environmental determinants and potential clinical, personal, and societal impact of iron overload and hereditary hemochromatosis in a multi-center, multiethnic, primary care-based sample of adults.

Background

Hereditary iron overload, or hemochromatosis, is a common inherited disorder resulting from overabsorption of dietary iron. Excess iron is deposited in body tissues, and can accumulate to toxic levels over time causing damage in multiple organ systems. If untreated, these conditions may lead to death. Evidence suggests that early diagnosis and treatment can prevent disease manifestations and enable normal life expectancy. Thus, hemochromatosis may be suitable for detection and intervention through primary care screening strategies; however, much remains to be learned about the penetrance and expression of the known gene variants, HFE C282Y and H63D, associated with hemochromatosis. Iron overload and hereditary hemochromatosis have not been as extensively studied in racial/ethnic groups other than Caucasians.

Subjects

The initial screen phase included 102,000 adults recruited over a 2-year period from 5 North American Field Centers (approx. 51% white, 24% African American, 11% Asian, 11% Hispanic, and 3% unidentified race; 63% are female and 37% are male).

Design

During the initial screen phase in 2001-2002, participants were recruited from primary care practices and blood-drawing laboratories. Blood specimens were tested for transferrin saturation (TS), serum ferritin (SF), and HFE C282Y and H63D genetic variants. Before genetic screening, participants were asked whether they had a history of medical conditions related to iron overload. Those participants with elevated iron levels and/or C282Y homozygosity, their family members, and frequency-matched control participants completed an examination that obtained data on personal and family medical history, lifestyle characteristics, genetic counseling and assessment of ethical, legal and social implications of screening, as well as clinical and biochemical measures. A separate randomized study examined the acceptability of genotypic or phenotypic (biochemical) screening for hemochromatosis.


The majority of HEIRS participants have a consent limited to research on iron related disorders; however, specimens and data from ~6770 participants are available for broader research use.

Conclusions

Findings include: 1) transferrin saturation (TS) and serum ferritin (SF) mean levels differ across race/ethnic groups; 2) HFE C282Y variant does not account for these levels in non-Caucasians (Adams et al, NEJM 352:1769-78, 2005); and 3) there is similar participant acceptance for genotypic as for phenotypic testing (Anderson et al, Genet Med. 7:557-63, 2005).

Disease classification

Publications

Mat types

Buffy Coat
DNA
Dried Buffy Coat
Lymphocytes
Plasma
Serum

The study population available in BioLINCC study data may be lower than total study enrollment due to Informed Consent restrictions and other factors.

  • Subjects

    Cases: 1678

    Controls: 641

    Screened Only: 99623


    Last Modified: July 28, 2014, 12:25 p.m.
  • Age

     

    Screened Only

    Case

    Control

    All

    N

    %

    N

    %

    N

    %

    N

    %

    Missing

    123

    0.12

    .

    .

    .

    .

    123

    0.12

    25-29

    7209

    7.24

    62

    3.69

    29

    4.52

    7300

    7.16

    30-34

    8734

    8.77

    90

    5.36

    30

    4.68

    8854

    8.69

    35-39

    9771

    9.81

    120

    7.15

    44

    6.86

    9935

    9.75

    40-44

    11265

    11.31

    153

    9.12

    50

    7.80

    11468

    11.25

    45-49

    12397

    12.44

    218

    12.99

    89

    13.88

    12704

    12.46

    50-54

    12580

    12.63

    258

    15.38

    83

    12.95

    12921

    12.67

    55-59

    10789

    10.83

    211

    12.57

    87

    13.57

    11087

    10.88

    60-64

    9099

    9.13

    192

    11.44

    61

    9.52

    9352

    9.17

    65-69

    6860

    6.89

    158

    9.42

    69

    10.76

    7087

    6.95

    70-74

    5049

    5.07

    97

    5.78

    47

    7.33

    5193

    5.09

    75-79

    3413

    3.43

    77

    4.59

    32

    4.99

    3522

    3.45

    80-84

    1676

    1.68

    33

    1.97

    17

    2.65

    1726

    1.69

    85-89

    506

    0.51

    9

    0.54

    2

    0.31

    517

    0.51

    90

    152

    0.15

    .

    .

    1

    0.16

    153

    0.15


    Last Modified: Aug. 24, 2015, 2:45 p.m.
  • Sex
     

     

    Screened Only

    Case

    Control

    All

    N

    %

    N

    %

    N

    %

    N

    %

    Missing

    12

    0.01

    .

    .

    .

    .

    12

    0.01

    Male

    36686

    36.82

    930

    55.42

    240

    37.44

    37856

    37.13

    Female

    62925

    63.16

    748

    44.58

    401

    62.56

    64074

    62.85


    Last Modified: Aug. 24, 2015, 2:45 p.m.
  • Race

     

    Screened Only

    Case

    Control

    All

    N

    %

    N

    %

    N

    %

    N

    %

    Hispanic

    12682

    12.73

    126

    7.51

    56

    8.74

    12864

    12.62

    Asian/Pacific Islander

    13301

    13.35

    466

    27.77

    111

    17.32

    13878

    13.61

    African American

    27154

    27.26

    288

    17.16

    92

    14.35

    27534

    27.01

    Caucasian

    43907

    44.07

    762

    45.41

    367

    57.25

    45036

    44.18

    Other

    2579

    2.59

    36

    2.15

    15

    2.34

    2630

    2.58


    Last Modified: Aug. 24, 2015, 2:45 p.m.

Please note that biospecimen availability is subject to review by the NHLBI, BioLINCC, and the NHLBI Biorepository. Certain biospecimens may not be made available for your request. Section 3 of the BioLINCC handbook describes the components of the review process

  • Material Types
  • General Freeze/Thaw Status
  • Visits (Vials)

    25 July 2023
     

    Serum Plasma Lymphocytes DNA Buffy Coat Dried Buffy Coat Total
    Screening 76,253 10 18 2,831 73,227 80,386 232,725
    Comprehensive Clinical Exam 11,192 4,578 7,968 20,559 2 2 44,301

    Last Modified: July 25, 2023, 10:42 a.m.
  • Visits (Subjects)
    25 July 2023
     
    Serum
    Total number of subjects Average volume (ml) per subject
    Screening 71,930 0.55
    Comprehensive Clinical Exam 2,237 2.91
     
      Plasma
    Total number of subjects Average volume (ml) per subject
    Screening 5 1.00
    Comprehensive Clinical Exam 2,225 1.21
     
      Lymphocytes
    Total number of subjects Average vials per subject
    Screening 5 3.60
    Comprehensive Clinical Exam 2,208 3.61
      Buffy Coat
    Total number of subjects Average vials per subject
    Screening 71,518 1.02
    Comprehensive Clinical Exam 2 1.00
     
      Dried Buffy Coat
    Total number of subjects Average vials per subject
    Screening 78,627 1.02
    Comprehensive Clinical Exam 2 1.00
     
      DNA
    Total number of subjects Average mass (µg) per subject Average vials per subject
    Screening 1,975 110.31 1.43
    Comprehensive Clinical Exam 2,233 318.85 9.21

    Last Modified: July 25, 2023, 10:42 a.m.